Gene Gene information from NCBI Gene database.
Entrez ID 10277
Gene name Ubiquitination factor E4B
Gene symbol UBE4B
Synonyms (NCBI Gene)
E4HDNB1UBOX3UFD2UFD2A
Chromosome 1
Chromosome location 1p36.22
Summary The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conju
miRNA miRNA information provided by mirtarbase database.
262
miRTarBase ID miRNA Experiments Reference
MIRT016837 hsa-miR-335-5p Microarray 18185580
MIRT049579 hsa-miR-92a-3p CLASH 23622248
MIRT042528 hsa-miR-423-3p CLASH 23622248
MIRT621670 hsa-miR-500a-5p HITS-CLIP 23824327
MIRT621669 hsa-miR-501-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
34
GO ID Ontology Definition Evidence Reference
GO:0000151 Component Ubiquitin ligase complex IEA
GO:0000151 Component Ubiquitin ligase complex TAS 11802788
GO:0000209 Process Protein polyubiquitination IBA
GO:0000209 Process Protein polyubiquitination IEA
GO:0003222 Process Ventricular trabecula myocardium morphogenesis IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613565 12500 ENSG00000130939
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O95155
Protein name Ubiquitin conjugation factor E4 B (EC 2.3.2.27) (Homozygously deleted in neuroblastoma 1) (RING-type E3 ubiquitin transferase E4 B) (Ubiquitin fusion degradation protein 2)
Protein function Ubiquitin-protein ligase that probably functions as an E3 ligase in conjunction with specific E1 and E2 ligases (By similarity). May also function as an E4 ligase mediating the assembly of polyubiquitin chains on substrates ubiquitinated by anot
PDB 2KRE , 3L1X , 3L1Z , 5O75
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10408 Ufd2P_core 591 1212 Ubiquitin elongating factor core Family
PF04564 U-box 1228 1299 U-box domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in differentiated myotubes (at protein level) (PubMed:17369820). Highest expression in ovary, testis, heart and skeletal muscle (PubMed:11802788). Expression is low in colon, thymus and peripheral blood leukocytes (PubMed:118
Sequence
MEELSADEIRRRRLARLAGGQTSQPTTPLTSPQRENPPGPPIAASAPGPSQSLGLNVHNM
TPATSPIGASGVAHRSQSSEGVSSLSSSPSNSLETQSQSLSRSQSMDIDGVSCEKSMSQV
DVDSGIENMEVDENDRREKRSLSDKEPSSGPEVSEEQALQLVCKIFRVSWKDRDRDVIFL
SSLSAQFKQNPKEVFSDFKDLIGQILMEVLMMSTQTRDENPFASLTATSQPIAAAARSPD
RNLLLNTGSNPGTSPMFCSVASFGASSLSSLYESSPAPTPSFWSSVPVMGPSLASPSRAA
SQLAVPSTPLSPHSAASGTAAGSQPSSPRYRPYTVTHPWASSGVSILSSSPSPPALASSP
QAVPASSSRQRPSSTGPPLPPASPSATSRRPSSLRISPSLGASGGASNWDSYSDHFTIET
CKETDMLNYLIECFDRVGIEEKKAPKMCSQPAVSQLLSNIRSQCISHTALVLQGSLTQPR
SLQQPSFLVPYMLCRNLPYGFIQELVRTTHQDEEVFKQIFIPILQGLALAAKECSLDSDY
FKYPLMALGELCETKFGKTHPVCNLVASLRLWLPKSLSPGCGRELQRLSYLGAFFSFSVF
AEDDVKVVEKYFSGPAITLENTRVVSQSLQHYLELGRQELFKILHSILLNGETREAALSY
MAAVVNANMKKAQMQTDDRLVSTDGFMLNFLWVLQQLSTKIKLETVDPTYIFHPRCRITL
PNDETRVNATMEDVNDWLTELYGDQPPFSEPKFPTECFFLTLHAHHLSILPSCRRYIRRL
RAIRELNRTVEDLKNNESQWKDSPLATRHREMLKRCKTQLKKLVRCKACADAGLLDESFL
RRCLNFYGLLIQLLLRILDPAYPDITLPLNSDVPKVFAALPEFYVEDVAEFLFFIVQYSP
QALYEPCTQDIVMFLVVMLCNQNYIRNPYLVAKLVEVMFMTNPAVQPRTQKFFEMIENHP
LSTKLLVPSLMKFYTDVEHTGATSEFYDKFTIRYHISTIFKSLWQNIAHHGTFMEEFNSG
KQFVRYINMLINDTTFLLDESLESLKRIHEVQEEMKNKEQWDQLPRDQQQARQSQLAQDE
RVSRSYLALATETVDMFHILTKQVQKPFLRPELGPRLAAMLNFNLQQLCGPKCRDLKVEN
PEKYGFEPKKLLDQLTDIYLQLDCARFAKAIADDQRSYSKELFEEVISKMRKAGIKSTIA
IEKFKLLAEKVE
EIVAKNARAEIDYSDAPDEFRDPLMDTLMTDPVRLPSGTIMDRSIILR
HLLNSPTDPFNRQTLTESMLEPVPELKEQIQAWMREKQN
SDH
Sequence length 1302
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Ubiquitin mediated proteolysis
Protein processing in endoplasmic reticulum
 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
10
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Likely benign rs189262553 RCV005932835
Developmental disorder Uncertain significance rs2523119409 RCV003128032
Gastric cancer Benign rs78519671 RCV005903395
Lung cancer Benign rs78519671 RCV005903397
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Hepatocellular Associate 36470669
Cardiomyopathies Associate 24454898
Charcot Marie Tooth Disease Associate 37595558
HAIR AN syndrome Associate 26673821
Leukemia Lymphoma Adult T Cell Associate 33362245
Myeloproliferative Disorder Chronic with Eosinophilia Associate 35996826
Neoplasm Metastasis Associate 37954063
Neoplasms Inhibit 15740626
Neoplasms Associate 36470669, 37954063
Neuroblastoma Associate 22990745, 31475882, 37957138